ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.1527+128A>G

gnomAD frequency: 0.98802  dbSNP: rs1285766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554603 SCV001775867 benign Spinocerebellar ataxia type 40 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554604 SCV001775868 benign Hydrocephalus, nonsyndromic, autosomal recessive 1 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615324 SCV001833470 benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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